Mutagenetix > Incidental Mutation

Incidental Mutation 'R4900:Sel1l3'

376080

Institutional Source

Beutler Lab

Gene Symbol

Sel1l3

Ensembl Gene

ENSMUSG00000029189

Gene Name

sel-1 suppressor of lin-12-like 3 (C. elegans)

Synonyms

2310045A20Rik

MMRRC Submission

042504-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53264425-53370794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53289184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 879 (L879Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031090]

AlphaFold

Q80TS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031090
AA Change: L879Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031090
Gene: ENSMUSG00000029189
AA Change: L879Q

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
SEL1	575	609	3.39e1	SMART
SEL1	611	647	1.85e1	SMART
SEL1	694	730	5.27e-5	SMART
SEL1	732	767	2.94e-3	SMART
SEL1	768	800	5.32e-1	SMART
SEL1	801	839	1.23e-5	SMART
SEL1	840	877	8.55e1	SMART
SEL1	952	988	2.56e-3	SMART
low complexity region	1048	1058	N/A	INTRINSIC
transmembrane domain	1065	1087	N/A	INTRINSIC
low complexity region	1102	1127	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (84/84)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
Abtb2	A	G	2: 103,397,349 (GRCm39)	E93G	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Adgrb2	T	A	4: 129,907,668 (GRCm39)	Y1001N	probably damaging	Het
Aox1	T	G	1: 58,344,544 (GRCm39)	S546A	probably benign	Het
Asic2	T	C	11: 81,464,280 (GRCm39)		probably benign	Het
Bcl11b	T	A	12: 107,955,957 (GRCm39)	N64I	probably damaging	Het
Cacna1g	A	G	11: 94,350,177 (GRCm39)	F556S	possibly damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdh11	C	T	8: 103,374,090 (GRCm39)		probably null	Het
Ces2g	C	T	8: 105,693,989 (GRCm39)	Q442*	probably null	Het
Cps1	A	T	1: 67,200,063 (GRCm39)	T404S	probably damaging	Het
Csf2rb2	A	T	15: 78,170,174 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,346,318 (GRCm39)	Y1526C	probably benign	Het
Cyp2a12	C	T	7: 26,730,640 (GRCm39)	Q202*	probably null	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Cyp2j13	G	A	4: 95,947,280 (GRCm39)	T257I	probably damaging	Het
Dnah8	T	A	17: 30,965,949 (GRCm39)	L2427Q	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Flvcr2	T	A	12: 85,829,756 (GRCm39)	V255D	probably damaging	Het
Galc	G	T	12: 98,197,731 (GRCm39)	T326K	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,291,561 (GRCm39)	Y808N	probably benign	Het
Glis1	C	T	4: 107,476,761 (GRCm39)	A306V	probably damaging	Het
Gm10638	A	G	8: 87,473,028 (GRCm39)		probably benign	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gm27048	C	T	8: 81,661,228 (GRCm39)		noncoding transcript	Het
Gm4204	T	C	1: 135,160,556 (GRCm39)		noncoding transcript	Het
Gm904	A	T	13: 50,799,325 (GRCm39)	I95F	possibly damaging	Het
Gvin3	T	G	7: 106,197,793 (GRCm39)		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ints11	G	A	4: 155,972,887 (GRCm39)	D526N	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Kcnj8	A	G	6: 142,512,221 (GRCm39)	S129P	probably damaging	Het
Kcnq3	A	G	15: 65,867,259 (GRCm39)	S795P	probably damaging	Het
Lhx8	G	T	3: 154,035,925 (GRCm39)	A22E	probably benign	Het
Lrp8	A	G	4: 107,664,006 (GRCm39)		probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Lvrn	T	C	18: 47,014,479 (GRCm39)	S526P	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mroh8	T	C	2: 157,070,647 (GRCm39)	E568G	probably benign	Het
Ms4a4b	C	A	19: 11,440,503 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,303,280 (GRCm39)	F99S	probably benign	Het
Myo5c	T	A	9: 75,180,825 (GRCm39)	I738N	probably damaging	Het
Naip6	A	C	13: 100,433,477 (GRCm39)	V1120G	probably damaging	Het
Ncl	T	C	1: 86,283,901 (GRCm39)	T307A	probably benign	Het
Npr1	A	T	3: 90,363,272 (GRCm39)	D869E	possibly damaging	Het
Nup93	A	G	8: 95,013,231 (GRCm39)	T36A	probably benign	Het
Olfml2b	C	A	1: 170,489,947 (GRCm39)	T189N	probably damaging	Het
Or4c12b	A	G	2: 89,647,312 (GRCm39)	N208S	possibly damaging	Het
Or8b9	T	C	9: 37,766,608 (GRCm39)	F165L	probably benign	Het
P4htm	A	C	9: 108,456,427 (GRCm39)	W458G	probably damaging	Het
Pdzrn4	G	T	15: 92,668,638 (GRCm39)	R930L	probably damaging	Het
Pgam5	G	A	5: 110,408,301 (GRCm39)	A240V	probably damaging	Het
Prex2	T	C	1: 11,220,129 (GRCm39)		probably benign	Het
Ptpru	T	G	4: 131,515,693 (GRCm39)	E897A	probably damaging	Het
Rapgef2	A	T	3: 78,981,670 (GRCm39)	N1256K	probably benign	Het
Rhbdl3	A	G	11: 80,210,439 (GRCm39)	E64G	probably benign	Het
Siah1a	G	T	8: 87,451,703 (GRCm39)	D260E	probably benign	Het
Skint6	T	C	4: 112,924,667 (GRCm39)	I522V	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Smok3c	T	C	5: 138,062,813 (GRCm39)	I100T	probably damaging	Het
Snx24	C	A	18: 53,518,295 (GRCm39)	Y141*	probably null	Het
Tigit	A	G	16: 43,469,594 (GRCm39)	S166P	probably damaging	Het
Tmem183a	C	T	1: 134,275,904 (GRCm39)	R324Q	probably benign	Het
Tmie	T	C	9: 110,696,001 (GRCm39)	D130G	possibly damaging	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Vmn2r111	T	C	17: 22,767,637 (GRCm39)	N620S	possibly damaging	Het
Vmn2r12	T	A	5: 109,240,852 (GRCm39)	N87I	probably damaging	Het
Vmn2r92	A	G	17: 18,404,605 (GRCm39)	D583G	probably benign	Het
Zdhhc17	T	C	10: 110,821,819 (GRCm39)	D60G	possibly damaging	Het

Other mutations in Sel1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Sel1l3	APN	5	53,273,675 (GRCm39)	missense	probably damaging	0.96
IGL01585:Sel1l3	APN	5	53,311,578 (GRCm39)	missense	probably damaging	0.99
IGL01717:Sel1l3	APN	5	53,357,510 (GRCm39)	missense	probably damaging	0.99
IGL01771:Sel1l3	APN	5	53,279,183 (GRCm39)	missense	probably damaging	0.99
IGL01926:Sel1l3	APN	5	53,357,485 (GRCm39)	missense	probably benign	0.26
IGL01963:Sel1l3	APN	5	53,357,680 (GRCm39)	missense	probably damaging	0.99
IGL02000:Sel1l3	APN	5	53,302,835 (GRCm39)	missense	probably damaging	1.00
IGL02132:Sel1l3	APN	5	53,327,747 (GRCm39)	missense	possibly damaging	0.89
IGL02198:Sel1l3	APN	5	53,297,141 (GRCm39)	splice site	probably benign
IGL02930:Sel1l3	APN	5	53,280,559 (GRCm39)	missense	possibly damaging	0.65
IGL03146:Sel1l3	APN	5	53,311,585 (GRCm39)	missense	probably benign	0.00
IGL03175:Sel1l3	APN	5	53,279,199 (GRCm39)	missense	probably damaging	1.00
R0083:Sel1l3	UTSW	5	53,295,244 (GRCm39)	missense	possibly damaging	0.79
R0108:Sel1l3	UTSW	5	53,295,244 (GRCm39)	missense	possibly damaging	0.79
R0108:Sel1l3	UTSW	5	53,295,244 (GRCm39)	missense	possibly damaging	0.79
R0940:Sel1l3	UTSW	5	53,301,379 (GRCm39)	splice site	probably benign
R1027:Sel1l3	UTSW	5	53,302,820 (GRCm39)	missense	possibly damaging	0.68
R1117:Sel1l3	UTSW	5	53,329,949 (GRCm39)	missense	probably benign	0.00
R1145:Sel1l3	UTSW	5	53,289,169 (GRCm39)	missense	probably damaging	0.99
R1145:Sel1l3	UTSW	5	53,289,169 (GRCm39)	missense	probably damaging	0.99
R1146:Sel1l3	UTSW	5	53,274,445 (GRCm39)	missense	possibly damaging	0.79
R1146:Sel1l3	UTSW	5	53,274,445 (GRCm39)	missense	possibly damaging	0.79
R1345:Sel1l3	UTSW	5	53,357,559 (GRCm39)	missense	possibly damaging	0.86
R1370:Sel1l3	UTSW	5	53,357,559 (GRCm39)	missense	possibly damaging	0.86
R1503:Sel1l3	UTSW	5	53,295,271 (GRCm39)	missense	probably damaging	0.98
R1747:Sel1l3	UTSW	5	53,302,887 (GRCm39)	missense	possibly damaging	0.91
R1764:Sel1l3	UTSW	5	53,327,789 (GRCm39)	nonsense	probably null
R2872:Sel1l3	UTSW	5	53,295,225 (GRCm39)	nonsense	probably null
R2872:Sel1l3	UTSW	5	53,295,225 (GRCm39)	nonsense	probably null
R3434:Sel1l3	UTSW	5	53,274,432 (GRCm39)	missense	probably benign	0.44
R4043:Sel1l3	UTSW	5	53,345,396 (GRCm39)	nonsense	probably null
R4074:Sel1l3	UTSW	5	53,311,629 (GRCm39)	missense	probably damaging	0.99
R4727:Sel1l3	UTSW	5	53,301,525 (GRCm39)	critical splice acceptor site	probably null
R4788:Sel1l3	UTSW	5	53,289,175 (GRCm39)	missense	probably benign	0.41
R5000:Sel1l3	UTSW	5	53,357,776 (GRCm39)	missense	probably damaging	0.97
R5090:Sel1l3	UTSW	5	53,357,388 (GRCm39)	missense	probably benign	0.03
R5330:Sel1l3	UTSW	5	53,343,351 (GRCm39)	missense	possibly damaging	0.80
R5456:Sel1l3	UTSW	5	53,357,378 (GRCm39)	missense	probably benign	0.13
R5544:Sel1l3	UTSW	5	53,357,644 (GRCm39)	missense	probably damaging	0.98
R5848:Sel1l3	UTSW	5	53,342,150 (GRCm39)	missense	possibly damaging	0.91
R6132:Sel1l3	UTSW	5	53,357,531 (GRCm39)	missense	possibly damaging	0.77
R6188:Sel1l3	UTSW	5	53,313,061 (GRCm39)	missense	possibly damaging	0.70
R6622:Sel1l3	UTSW	5	53,297,202 (GRCm39)	missense	probably damaging	0.98
R7015:Sel1l3	UTSW	5	53,329,916 (GRCm39)	missense	probably benign	0.03
R7200:Sel1l3	UTSW	5	53,301,451 (GRCm39)	missense	probably benign	0.22
R7271:Sel1l3	UTSW	5	53,273,704 (GRCm39)	missense	probably damaging	0.98
R7378:Sel1l3	UTSW	5	53,273,751 (GRCm39)	missense	probably benign	0.02
R7479:Sel1l3	UTSW	5	53,274,462 (GRCm39)	missense	probably damaging	0.99
R7563:Sel1l3	UTSW	5	53,343,326 (GRCm39)	missense	probably damaging	1.00
R7643:Sel1l3	UTSW	5	53,280,504 (GRCm39)	splice site	probably null
R7741:Sel1l3	UTSW	5	53,357,593 (GRCm39)	missense	probably damaging	1.00
R7743:Sel1l3	UTSW	5	53,293,227 (GRCm39)	missense	probably benign	0.07
R7861:Sel1l3	UTSW	5	53,301,406 (GRCm39)	missense	probably damaging	0.96
R7904:Sel1l3	UTSW	5	53,297,166 (GRCm39)	missense	probably benign	0.24
R8222:Sel1l3	UTSW	5	53,345,296 (GRCm39)	critical splice donor site	probably null
R8724:Sel1l3	UTSW	5	53,293,165 (GRCm39)	nonsense	probably null
R8788:Sel1l3	UTSW	5	53,332,148 (GRCm39)	nonsense	probably null
R8988:Sel1l3	UTSW	5	53,280,771 (GRCm39)	missense	probably damaging	0.96
R9111:Sel1l3	UTSW	5	53,279,213 (GRCm39)	splice site	probably benign
R9153:Sel1l3	UTSW	5	53,293,188 (GRCm39)	missense	probably benign	0.26
R9269:Sel1l3	UTSW	5	53,311,628 (GRCm39)	missense	probably damaging	1.00
R9399:Sel1l3	UTSW	5	53,265,486 (GRCm39)	missense	probably benign
R9455:Sel1l3	UTSW	5	53,289,157 (GRCm39)	missense	probably damaging	0.99
R9630:Sel1l3	UTSW	5	53,342,117 (GRCm39)	missense	possibly damaging	0.49
R9793:Sel1l3	UTSW	5	53,329,924 (GRCm39)	missense	probably benign	0.02
R9795:Sel1l3	UTSW	5	53,329,924 (GRCm39)	missense	probably benign	0.02
Z1088:Sel1l3	UTSW	5	53,273,538 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TACTGGGAGGCTGTGATTTCCC -3'
(R):5'- ACGAGAGCTCTCAAAATGCATTC -3'

Sequencing Primer
(F):5'- AGGCTGTGATTTCCCTGTAAATTGC -3'
(R):5'- GAGCTCTCAAAATGCATTCTCTTTAC -3'

Posted On

2016-03-17